Acquired Gitelman Syndrome

Acquired Gitelman Syndrome

Acquired renal tubular disorder can be observed in various disease processes, especially autoimmune diseases. Gitelman syndrome is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCCT). Acquired Gitelman syndrome ha...

Gitelman syndrome.

Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthos...

Gitelman syndrome

In the past decade our understanding of the etiology and pathophysiology of Gitelman syndrome, an autosomal recessive salt-losing tubular disorder with secondary hypokalemia, has increased considerably through the achievements of molecular genetics and cell physiology. In this short review, I will summarize the most recent data on the clinical and biochemical phenotype, the molecular causes, an...

Gitelman syndrome

Bartter syndrome and Gitelman syndrome

Conclusions: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with sypmtoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman synd...